ALAD porphyria

Preferred Label : ALAD porphyria;

ICD-11 definition : Porphyria due to ALA dehydratase deficiency, also called Porphyria of doss, is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.The disease occurs in children. Patients suffer acute neuro-visceral attacks, which persist for several weeks and manifest as intense abdominal pain, and neurological and psychological symptoms.;

ICD-11 synonym : 5-ALA dehydratase-deficient porphyria; Porphyria of Doss; Aminolevulinate dehydratase deficiency porphyria; Aminolevulinic acid dehydratase deficiency porphyria; ADP - [Aminolevulinate dehydratase deficiency porphyria]; Porphyria due to ALA dehydratase deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency;

ICD-11 acronym : ADP;

Détails

Origin ID

1158153414;

UMLS CUI

C0268328;

Automatic exact mappings (from CISMeF team)
- ALAD porphyria [MedDRA LLT]
- Adenosine diphosphate [LOINC component]
- Adenosine diphosphate (substance) [SNOMED CT concept]
- Lymphadenopathy [MeSH Descriptor]
- adenosine diphosphate [MeSH concept]
- adenosine diphosphate [SNOMED Notion]
- adenosine diphosphate [MeSH Descriptor]
- alkylglycerone phosphate synthase [ORDO Gene]
Currated CISMeF NLP mapping
- Acute hepatic porphyria [ORDO Disease]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- Porphyria, acute hepatic [OMIM Phenotype]
- porphyria, acute hepatic [MeSH Supplementary Concept]
- porphyria, acute hepatic [MeSH concept]
False automatic mappings
- Adenosine Diphosphate Measurement [NCIt concept]
- adenosine 5'-O-(2-thiodiphosphate) [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALAD porphyria [MedDRA LLT]
- Acute Hepatic Porphyria [NCIt concept]
- Acute hepatic porphyria [ORDO Disease]
- Acute hepatic porphyria [MedDRA LLT]
- Porphobilinogen synthase deficiency (disorder) [SNOMED CT concept]
- Porphyria due to ALA dehydratase deficiency [ORDO Disease]
- Porphyria, acute hepatic [OMIM Phenotype]
- porphobilinogen synthase deficiency [SNOMED Notion]
- porphyria, acute hepatic [MeSH concept]
- porphyria, acute hepatic [MeSH Supplementary Concept]

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